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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1074533601
Gene:
Linked Data
dbSNP Id:
rs1739559714
gnomAD v3:
5-29023271-CTT-C
gnomAD v4:
5-29023271-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.29023273_29023274del , CM000667.2:g.29023273_29023274del
GRCh38
NC_000005.9:g.29023380_29023381del , CM000667.1:g.29023380_29023381del
GRCh37
NC_000005.8:g.29059137_29059138del
NCBI36
Search 100 bp 5'
Search 100 bp 3'